Literature DB >> 15778103

Progressive myoclonic epilepsies: a review of genetic and therapeutic aspects.

Amre Shahwan1, Michael Farrell, Norman Delanty.   

Abstract

The progressive myoclonic epilepsies (PMEs) are a group of symptomatic generalised epilepsies caused by rare disorders, most of which have a genetic component, a debilitating course, and a poor outcome. Challenges with PME arise from difficulty with diagnosis, especially in the early stages of the illness, and further problems of management and drug treatment. Recent advances in molecular genetics have helped achieve better understanding of the different disorders that cause PME. We review the PMEs with emphasis on updated genetics, diagnosis, and therapeutic options.

Entities:  

Mesh:

Year:  2005        PMID: 15778103     DOI: 10.1016/S1474-4422(05)70043-0

Source DB:  PubMed          Journal:  Lancet Neurol        ISSN: 1474-4422            Impact factor:   44.182


  55 in total

Review 1.  Lafora disease: epidemiology, pathophysiology and management.

Authors:  Thomas S Monaghan; Norman Delanty
Journal:  CNS Drugs       Date:  2010-07       Impact factor: 5.749

Review 2.  Progressive myoclonic epilepsies: review of clinical, molecular and therapeutic aspects.

Authors:  Luis Felipe Mendonça de Siqueira
Journal:  J Neurol       Date:  2010-07-01       Impact factor: 4.849

Review 3.  Ethical, legal, and social dimensions of epilepsy genetics.

Authors:  Sara Shostak; Ruth Ottman
Journal:  Epilepsia       Date:  2006-10       Impact factor: 5.864

4.  Mutant batten disease protein says "no" to unsaturated fats.

Authors:  Martin J Gallagher
Journal:  Epilepsy Curr       Date:  2007 May-Jun       Impact factor: 7.500

5.  Targeting Pathogenic Lafora Bodies in Lafora Disease Using an Antibody-Enzyme Fusion.

Authors:  M Kathryn Brewer; Annette Uittenbogaard; Grant L Austin; Dyann M Segvich; Anna DePaoli-Roach; Peter J Roach; John J McCarthy; Zoe R Simmons; Jason A Brandon; Zhengqiu Zhou; Jill Zeller; Lyndsay E A Young; Ramon C Sun; James R Pauly; Nadine M Aziz; Bradley L Hodges; Tracy R McKnight; Dustin D Armstrong; Matthew S Gentry
Journal:  Cell Metab       Date:  2019-07-25       Impact factor: 27.287

6.  GPR37L1 modulates seizure susceptibility: Evidence from mouse studies and analyses of a human GPR37L1 variant.

Authors:  Michelle M Giddens; Jennifer C Wong; Jason P Schroeder; Emily G Farrow; Brilee M Smith; Sharon Owino; Sarah E Soden; Rebecca C Meyer; Carol Saunders; J B LePichon; David Weinshenker; Andrew Escayg; Randy A Hall
Journal:  Neurobiol Dis       Date:  2017-07-06       Impact factor: 5.996

7.  Acute bilateral vision loss as the presenting feature of subacute sclerosing panencephalitis.

Authors:  Suvasini Sharma; Bhuvan Chanana; Sheffali Gulati; Pradeep Venkatesh; Sarman Singh
Journal:  Indian J Pediatr       Date:  2009-11-04       Impact factor: 1.967

Review 8.  Lafora disease - from pathogenesis to treatment strategies.

Authors:  Felix Nitschke; Saija J Ahonen; Silvia Nitschke; Sharmistha Mitra; Berge A Minassian
Journal:  Nat Rev Neurol       Date:  2018-10       Impact factor: 42.937

Review 9.  Epilepsy and inborn errors of metabolism in adults: a diagnostic approach.

Authors:  F Sedel; I Gourfinkel-An; O Lyon-Caen; M Baulac; J-M Saudubray; V Navarro
Journal:  J Inherit Metab Dis       Date:  2007-10-22       Impact factor: 4.982

10.  Lafora disease as a cause of visually exacerbated myoclonic attacks in a dog.

Authors:  Aubrey A Webb; Chantal McMillan; Cheryl L Cullen; Sarah E Boston; Julie Turnbull; Berge A Minassian
Journal:  Can Vet J       Date:  2009-09       Impact factor: 1.008

View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.